rs141243713

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs141243713(A;A)

Make rs141243713(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

23561510

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs141243713
dbSNP (classic)	rs141243713
ClinGen	rs141243713
ebi	rs141243713
HLI	rs141243713
Exac	rs141243713
Gnomad	rs141243713
Varsome	rs141243713
LitVar	rs141243713
Map	rs141243713
PheGenI	rs141243713
Biobank	rs141243713
1000 genomes	rs141243713
hgdp	rs141243713
ensembl	rs141243713
geneview	rs141243713
scholar	rs141243713
google	rs141243713
pharmgkb	rs141243713
gwascentral	rs141243713
openSNP	rs141243713
23andMe	rs141243713
SNPshot	rs141243713
SNPdbe	rs141243713
MSV3d	rs141243713
GWAS Ctlg	rs141243713

Max Magnitude

0

ClinVar
Risk	rs141243713(A;A)
Alt	rs141243713(A;A)
Reference	Rs141243713(G;G)
Significance	Probable-Pathogenic
Disease	not specified
Variation	info
Gene	NPC1
CLNDBN	not specified
Reversed	0
HGVS	NC_000018.9:g.21141474G>A
CLNSRC
CLNACC	RCV000261387.1,